PTPRO Chromosome 12
Protein tyrosine phosphatase receptor type O
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What This Gene Does
This gene encodes a member of the R3 subtype family of receptor-type protein tyrosine phosphatases. These proteins are localized to the apical surface of polarized cells and may have tissue-specific functions through activation of Src family kinases. This gene contains two distinct promoters, and alternatively spliced transcript variants encoding multiple isoforms have been observed. The encoded proteins may have multiple isoform-specific and tissue-specific functions, including the regulation of osteoclast production and activity, inhibition of cell proliferation and facilitation of apoptosis. This gene is a candidate tumor suppressor, and decreased expression of this gene has been observed in several types of cancer. [provided by RefSeq, May 2011]
Gene Info
Gene Group
"Fibronectin type III domain containing|Protein tyrosine phosphatases receptor type"
Locus Type
gene with protein product
Location
12p12.3
Ensembl
ENSG00000151490
Associated Conditions (4)
Corticosteroids response
PTPRO-related disorder
Nephrotic syndrome
type 6
Key Variants
RS2135644233
drug response
Corticosteroids response, Corticosteroids response
Drug Response
RS150159022
Conflicting classifications of pathogenicity
PTPRO-related disorder, PTPRO-related disorder
Health Risk
RS528784695
Conflicting classifications of pathogenicity
Corticosteroids response, Nephrotic syndrome, type 6
Health Risk
RS564473574
Conflicting classifications of pathogenicity
Nephrotic syndrome, type 6, Nephrotic syndrome
Health Risk
RS755074605
Conflicting classifications of pathogenicity
PTPRO-related disorder, Nephrotic syndrome, type 6
Health Risk
RS756776270
Conflicting classifications of pathogenicity
PTPRO-related disorder, Nephrotic syndrome, type 6
Health Risk
RS770704400
Conflicting classifications of pathogenicity
Nephrotic syndrome, type 6, Nephrotic syndrome
Health Risk
RS1943381499
Likely pathogenic
Health Risk
RS2135595547
Likely pathogenic
Health Risk
RS1591732280
Pathogenic
Nephrotic syndrome, type 6, Nephrotic syndrome
Health Risk
RS1591750243
Pathogenic
Nephrotic syndrome, type 6, Nephrotic syndrome
Health Risk
RS2539945228
Pathogenic
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2135644233 | Drug Response | drug response | Corticosteroids response, Corticosteroids response |
| RS150159022 | Health Risk | Conflicting classifications of pathogenicity | PTPRO-related disorder, PTPRO-related disorder |
| RS528784695 | Health Risk | Conflicting classifications of pathogenicity | Corticosteroids response, Nephrotic syndrome, type 6 |
| RS564473574 | Health Risk | Conflicting classifications of pathogenicity | Nephrotic syndrome, type 6, Nephrotic syndrome |
| RS755074605 | Health Risk | Conflicting classifications of pathogenicity | PTPRO-related disorder, Nephrotic syndrome, type 6 |
| RS756776270 | Health Risk | Conflicting classifications of pathogenicity | PTPRO-related disorder, Nephrotic syndrome, type 6 |
| RS770704400 | Health Risk | Conflicting classifications of pathogenicity | Nephrotic syndrome, type 6, Nephrotic syndrome |
| RS1943381499 | Health Risk | Likely pathogenic | — |
| RS2135595547 | Health Risk | Likely pathogenic | — |
| RS1591732280 | Health Risk | Pathogenic | Nephrotic syndrome, type 6, Nephrotic syndrome |
| RS1591750243 | Health Risk | Pathogenic | Nephrotic syndrome, type 6, Nephrotic syndrome |
| RS2539945228 | Health Risk | Pathogenic | — |
| RS2539990210 | Health Risk | Pathogenic | — |